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General |
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| Clinical Use: | Peripheral blood chromosomal breakage analysis is an integral part of the investigations required for the diagnosis and management of aplastic anaemia. Fanconi anaemia (FA) is a chromosomal instability syndrome, characterised by hypersensitivity to chromosomal breakage induces by DNA cross-linking agents. Patients with FA will not respond to immunosuppression therapy in case of bone marrow failure and there is an increased risk toxicity of the conventional conditioning for haematopoietic stem cell transplantation (HSCT). In addition, patients with FA require appropriate cancer surveillance through life due to the overall risk of developing malignancy. | |||||||||
| Availability: | Samples are tested Monday and Tuesday. Samples must reach testing laboratory prior to 4pm Tuesdays. |
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| Aliases/Synonyms: | Chromosome Studies - Instability (Fragility Studies), | |||||||||
| Code: | CKB | |||||||||
| Handling Instructions (to laboratory): | Send sample chilled. | |||||||||
| Hyperlink: | https://pathwest.health.wa.gov.au/Our-Services/Clinical-Services/Diagnostic-Genomics/Cytogenetics-and-Microarray | |||||||||
| Reference Interval: |
Not Applicable |
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Collection Requirements |
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| Container: | Sodium Heparin,No Gel (NAGREEN), | |||||||||
| Sample Type: | See container | |||||||||
| Minimum Collection Volume: | 1.5mL | |||||||||
| Collection Instructions: | Regional Services: Collect sample Mondays only. Do not collect prior to public holidays. Dedicated sample required. Paediatric Lithium Heparin sample is acceptable for patients aged <5 years. |
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Processing Requirements |
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| Alternate Containers: | ||||||||||
| Lithium Heparin, No Gel (DKGNLITH) | ||||||||||
| Processing Instructions: | Do not centrifuge sample. Store sample chilled. |
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| Minimum Assay Volume: | 1.5mL | |||||||||
| Stability: | 3 days chilled | |||||||||
| Transport Instructions (to testing laboratory): | Send sample chilled. | |||||||||
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Testing Locations |
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| Performed at: |
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Last Updated : 14-12-2023 14:02 |
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